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Congenital progressive hydronephrosis (cph) is caused by an S256L mutation in aquaporin-2 that affects its phosphorylation and apical membrane accumulation.
Proc Natl Acad Sci U S A. 2006 May 2;103(18):6952-7. doi: 10.1073/pnas.0602087103. Epub 2006 Apr 25.
Proc Natl Acad Sci U S A. 2006.
PMID: 16641094
Free PMC article.
cDNA and genomic cloning of mouse aquaporin-2: functional analysis of an orthologous mutant causing nephrogenic diabetes insipidus.
Yang B, Ma T, Xu Z, Verkman AS.
Yang B, et al.
Genomics. 1999 Apr 1;57(1):79-83. doi: 10.1006/geno.1999.5759.
Genomics. 1999.
PMID: 10191086
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